Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees: two novel pedigrees

NBR-RD PID Consortium, NIHR BioResource; NBR-RD PID Consortium; NIHR BioResource

doi:https://doi.org/10.1111/bjh.17081

Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees: two novel pedigrees

NBR-RD PID Consortium, NIHR BioResource, NBR-RD PID Consortium, NIHR BioResource

Research output: Contribution to journal › Letter › Academic › peer-review

5 Citations (Scopus)

Original language	English
Pages (from-to)	930-934
Number of pages	5
Journal	British journal of haematology
Volume	191
Issue number	5
Early online date	2020
DOIs	https://doi.org/10.1111/bjh.17081
Publication status	Published - Dec 2020

Keywords

congenital neutropenia
granulocyte colony-stimulating factor
granulocyte colony-stimulating factor receptor
neutrophils
primary immunodeficiency

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https://doi.org/10.1111/bjh.17081

Cite this

@article{2b4ad441113c4918ad5e246e368ac5e0,

title = "Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees: two novel pedigrees",

keywords = "congenital neutropenia, granulocyte colony-stimulating factor, granulocyte colony-stimulating factor receptor, neutrophils, primary immunodeficiency",

author = "Sprenkeler, {Evelien G. G.} and Tool, {Anton T. J.} and Kreft, {Iris C.} and {van Alphen}, {Floris P. J.} and Seneviratne, {Suranjith L.} and Jesmeen Maimaris and {NBR-RD PID Consortium, NIHR BioResource} and Asad Luqmani and {van Leeuwen}, Karin and {van Bruggen}, Robin and Burns, {Siobhan O.} and Kuijpers, {Taco W.} and {NBR-RD PID Consortium} and {NIHR BioResource} and Karin Vanleeuwen and Robin Vanbruggen and Zoe Adhya and Hana Alachkar and Allen, {Carl E.} and Anantharachagan, {Ari Haran} and Richard Antrobus and Gururaj Arumu-Gakani and Chiara Bacchelli and Baxendale, {Helen E.} and Claire Bethune and Shahnaz Bibi and Barbara Boardman and Claire Booth and Matthew Brown and Browning, {Michael J.} and Mary Brownlie and Buckland, {Matthew S.} and Burren, {Oliver S.} and Anita Chandra and Chinn, {Ivan K.} and Hayley Clifford and Nichola Cooper and Bree, {Godelieve J.de} and Davies, {E. Graham} and Sarah Deacock and John Dempster and Devlin, {Lisa A.} and Elizabeth Drewe and Edgar, {J. David M.} and William Egner and Khalifa, {Shuayb El} and Tariq El-Shanawany and Farmery, {James H.R.} and Gaspar, {H. Bobby} and Rohit Ghurye and Gil-Mour, {Kimberly C.} and Sarah Goddard and Pavels Gordins",

note = "Funding Information: This study was funded in part by the European Union's Horizon 2020 research and innovation programme under Grant Agreement No. 668303, Program on Prevention Outcomes Practices Grant PPOP‐12‐001 and the Center of Immunodeficiencies Amsterdam Grant CIDA‐2015. Funding Information: We are most grateful to the patients and their families for their collaboration. We thank Ida H. Hiemstra and Cathelijn E.M. Aarts for isolation of bone marrow neutrophils and flow cytometric analysis. We thank NIHR BioResource volunteers for their participation, and gratefully acknowledge NIHR BioResource centres, NHS Trusts and staff for their contribution. We thank the National Institute for Health Research and NHS Blood and Transplant. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. We would like to thank the members of the NBR-RD PID Consortium: Zoe Adhya, Hana Alachkar, Carl E. Allen, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen E Baxendale, Claire Bethune, Shahnaz Bibi, Barbara Boardman, Claire Booth, Matthew Brown, Michael J Browning, Mary Brownlie, Matthew S Buckland, Siobhan O Burns, Oliver S Burren, Anita Chandra, Ivan K. Chinn, Hayley Clifford, Nichola Cooper, Godelieve J de Bree, E Graham Davies, Sarah Deacock, John Dempster, Lisa A Devlin, Elizabeth Drewe, J David M Edgar, William Egner, Shuayb El Khalifa, Tariq El-Shanawany, James H R Farmery, H Bobby Gaspar, Rohit Ghurye, Kimberly C Gilmour, Sarah Goddard, Pavels Gordins, Sofia Grigoriadou, Scott J Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Stephen Hughes, Aarnoud P Huissoon, Stephen Jolles, Julie Jones, Yousuf M Karim, Peter Kelleher, Sorena Kiani, Nigel Klein, Taco W Kuijpers, Dinakantha S Kumararatne, James Laffan, Hana Lango Allen, Sara E Lear, Hilary Longhurst, Lorena E Lorenzo, Paul A Lyons, Jesmeen Maimaris, Ania Manson, Elizabeth M McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai H K Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark J Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, Paula Rayner-Matthews, Alex Richter, Crina Samarghitean, Ravishankar B Sargur, Sinisa Savic, Suranjith L Seneviratne, W A Carrock Sewell, Fiona Shackley, Olga Shamardina, Ilenia Simeoni, Kenneth G C Smith, Emily Staples, Hans Stauss, Cathal L Steele, Kathleen E Stirrups, James E Thaventhiran, David C Thomas, Moira J Thomas, Adrian J Thrasher, John A Todd, Anton T J Tool, Salih Tuna, Rafal D Urniaz, Steven B Welch, Lisa Willcocks, Sarita Workman, Austen Worth, Nigel Yeatman, Patrick F K Yong.",

year = "2020",

month = dec,

doi = "https://doi.org/10.1111/bjh.17081",

language = "English",

volume = "191",

pages = "930--934",

journal = "British journal of haematology",

issn = "0007-1048",

publisher = "Wiley-Blackwell",

number = "5",

}

Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees: two novel pedigrees. / NBR-RD PID Consortium, NIHR BioResource; NBR-RD PID Consortium; NIHR BioResource.
In: British journal of haematology, Vol. 191, No. 5, 12.2020, p. 930-934.

Research output: Contribution to journal › Letter › Academic › peer-review

TY - JOUR

T1 - Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees

T2 - two novel pedigrees

AU - Sprenkeler, Evelien G. G.

AU - Tool, Anton T. J.

AU - Kreft, Iris C.

AU - van Alphen, Floris P. J.

AU - Seneviratne, Suranjith L.

AU - Maimaris, Jesmeen

AU - NBR-RD PID Consortium, NIHR BioResource

AU - Luqmani, Asad

AU - van Leeuwen, Karin

AU - van Bruggen, Robin

AU - Burns, Siobhan O.

AU - Kuijpers, Taco W.

AU - NBR-RD PID Consortium

AU - NIHR BioResource

AU - Vanleeuwen, Karin

AU - Vanbruggen, Robin

AU - Adhya, Zoe

AU - Alachkar, Hana

AU - Allen, Carl E.

AU - Anantharachagan, Ari Haran

AU - Antrobus, Richard

AU - Arumu-Gakani, Gururaj

AU - Bacchelli, Chiara

AU - Baxendale, Helen E.

AU - Bethune, Claire

AU - Bibi, Shahnaz

AU - Boardman, Barbara

AU - Booth, Claire

AU - Brown, Matthew

AU - Browning, Michael J.

AU - Brownlie, Mary

AU - Buckland, Matthew S.

AU - Burren, Oliver S.

AU - Chandra, Anita

AU - Chinn, Ivan K.

AU - Clifford, Hayley

AU - Cooper, Nichola

AU - Bree, Godelieve J.de

AU - Davies, E. Graham

AU - Deacock, Sarah

AU - Dempster, John

AU - Devlin, Lisa A.

AU - Drewe, Elizabeth

AU - Edgar, J. David M.

AU - Egner, William

AU - Khalifa, Shuayb El

AU - El-Shanawany, Tariq

AU - Farmery, James H.R.

AU - Gaspar, H. Bobby

AU - Ghurye, Rohit

AU - Gil-Mour, Kimberly C.

AU - Goddard, Sarah

AU - Gordins, Pavels

N1 - Funding Information: This study was funded in part by the European Union's Horizon 2020 research and innovation programme under Grant Agreement No. 668303, Program on Prevention Outcomes Practices Grant PPOP‐12‐001 and the Center of Immunodeficiencies Amsterdam Grant CIDA‐2015. Funding Information: We are most grateful to the patients and their families for their collaboration. We thank Ida H. Hiemstra and Cathelijn E.M. Aarts for isolation of bone marrow neutrophils and flow cytometric analysis. We thank NIHR BioResource volunteers for their participation, and gratefully acknowledge NIHR BioResource centres, NHS Trusts and staff for their contribution. We thank the National Institute for Health Research and NHS Blood and Transplant. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. We would like to thank the members of the NBR-RD PID Consortium: Zoe Adhya, Hana Alachkar, Carl E. Allen, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen E Baxendale, Claire Bethune, Shahnaz Bibi, Barbara Boardman, Claire Booth, Matthew Brown, Michael J Browning, Mary Brownlie, Matthew S Buckland, Siobhan O Burns, Oliver S Burren, Anita Chandra, Ivan K. Chinn, Hayley Clifford, Nichola Cooper, Godelieve J de Bree, E Graham Davies, Sarah Deacock, John Dempster, Lisa A Devlin, Elizabeth Drewe, J David M Edgar, William Egner, Shuayb El Khalifa, Tariq El-Shanawany, James H R Farmery, H Bobby Gaspar, Rohit Ghurye, Kimberly C Gilmour, Sarah Goddard, Pavels Gordins, Sofia Grigoriadou, Scott J Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Stephen Hughes, Aarnoud P Huissoon, Stephen Jolles, Julie Jones, Yousuf M Karim, Peter Kelleher, Sorena Kiani, Nigel Klein, Taco W Kuijpers, Dinakantha S Kumararatne, James Laffan, Hana Lango Allen, Sara E Lear, Hilary Longhurst, Lorena E Lorenzo, Paul A Lyons, Jesmeen Maimaris, Ania Manson, Elizabeth M McDermott, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai H K Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark J Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, Paula Rayner-Matthews, Alex Richter, Crina Samarghitean, Ravishankar B Sargur, Sinisa Savic, Suranjith L Seneviratne, W A Carrock Sewell, Fiona Shackley, Olga Shamardina, Ilenia Simeoni, Kenneth G C Smith, Emily Staples, Hans Stauss, Cathal L Steele, Kathleen E Stirrups, James E Thaventhiran, David C Thomas, Moira J Thomas, Adrian J Thrasher, John A Todd, Anton T J Tool, Salih Tuna, Rafal D Urniaz, Steven B Welch, Lisa Willcocks, Sarita Workman, Austen Worth, Nigel Yeatman, Patrick F K Yong.

PY - 2020/12

Y1 - 2020/12

KW - congenital neutropenia

KW - granulocyte colony-stimulating factor

KW - granulocyte colony-stimulating factor receptor

KW - neutrophils

KW - primary immunodeficiency

UR - http://www.scopus.com/inward/record.url?scp=85091380595&partnerID=8YFLogxK

U2 - https://doi.org/10.1111/bjh.17081

DO - https://doi.org/10.1111/bjh.17081

M3 - Letter

C2 - 32966608

SN - 0007-1048

VL - 191

SP - 930

EP - 934

JO - British journal of haematology

JF - British journal of haematology

IS - 5

ER -

Loss-of-function mutations in CSF3R cause moderate neutropenia with fully mature neutrophils: two novel pedigrees: two novel pedigrees

Keywords

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